The genetics of human skin and hair pigmentation

WJ Pavan, RA Sturm - Annual review of genomics and human …, 2019 - annualreviews.org
Human skin and hair color are visible traits that can vary dramatically within and across
ethnic populations. The genetic makeup of these traits—including polymorphisms in the …

HERC ubiquitin ligases in cancer

J Sala-Gaston, A Martinez-Martinez, L Pedrazza… - Cancers, 2020 - mdpi.com
HERC proteins are ubiquitin E3 ligases of the HECT family. The HERC subfamily is
composed of six members classified by size into large (HERC1 and HERC2) and small …

The interplay of sun damage and genetic risk in Australian multiple and single primary melanoma cases and controls

EK McMeniman, DL Duffy, K Jagirdar… - British Journal of …, 2020 - academic.oup.com
Background Skin phenotype, host genotype and ultraviolet (UV) damage play a role in the
development of melanoma. Objectives To ascertain whether the level of UV damage at the …

'Mind your Moles' study: protocol of a prospective cohort study of melanocytic naevi

U Koh, M Janda, JF Aitken, DL Duffy, S Menzies… - BMJ open, 2018 - bmjopen.bmj.com
Introduction Having many melanocytic naevi or 'moles' on the skin is the strongest predictor
of melanoma; thus, much can be learnt from investigating naevi in the general population …

[HTML][HTML] Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants

JE Rayner, DL Duffy, DJ Smit, K Jagirdar, KJ Lee… - PLoS …, 2020 - journals.plos.org
Amelanotic/hypomelanotic melanoma is a clinicopathologic subtype with absent or minimal
melanin. This study assessed previously reported coding variants in albinism genes (TYR …

Eye color and the risk of skin cancer

Y Li, WQ Li, T Li, AA Qureshi, E Cho - Cancer Causes & Control, 2022 - Springer
Melanoma, basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) are the most
common skin cancers. The incidence rates of all three types of skin cancers have increased …

Phenotypic and genotypic analysis of amelanotic and hypomelanotic melanoma patients

JE Rayner, EK McMeniman, DL Duffy… - Journal of the …, 2019 - Wiley Online Library
Background Amelanotic/hypomelanotic melanoma is associated with poorer outcomes due
to a more advanced disease stage at diagnosis. Objective To determine phenotypic risks …

A ZFP42/MARK2 regulatory network reduces the damage of retinal ganglion cells in glaucoma: a study based on GEO dataset and in vitro experiments

Y Yin, S Wu, L Niu, S Huang - Apoptosis, 2022 - Springer
Glaucoma is a common disorder in which the death of retinal ganglion cells (RGCs) results
in a progressive loss of sight, even blindness. This study was performed to reveal the key …

Investigating the genetic architecture of eye colour in a Canadian cohort

F Lona-Durazo, R Thakur, E Pairo-Castineira… - Iscience, 2022 - cell.com
Eye color is highly variable in populations with European ancestry, ranging from low to high
quantities of melanin in the iris. Polymorphisms in the HERC2/OCA2 locus have the largest …

[HTML][HTML] Benign and Malignant Iris Tumors

M Moshirfar, A Rageh, Y Ronquillo - StatPearls [Internet], 2024 - ncbi.nlm.nih.gov
Iris tumors are relatively infrequent compared to similar ciliary tumors but comprise a broad
spectrum of benign and malignant pathologies. Due to the lack of metastatic potential …